Canonical Allele Identifier: CA2336460046

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424499C= , CM000681.2:g.41424499C=	GRCh38
NC_000019.9:g.41930404C= , CM000681.1:g.41930404C=	GRCh37
NC_000019.8:g.46622244C=	NCBI36
NG_013004.1:g.31711C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1229C= MANE Select	ENSP00000269980.2:p.Ser410=
ENST00000269980.6:c.1229C=	ENSP00000269980.2:p.Ser410=
ENST00000457836.6:c.1238C=	ENSP00000416000.2:p.Ser413=
ENST00000540732.3:c.1331C=	ENSP00000443246.1:p.Ser444=
ENST00000544905.1:c.62-3C=
ENST00000595085.5:c.922+1802C=	ENSP00000471150.2:n.922+1802C=
NM_000709.3:c.1229C=	NP_000700.1:p.Ser410=
NM_001164783.1:c.1226C=	NP_001158255.1:p.Ser409=
NM_000709.4:c.1229C= MANE Select	NP_000700.1:p.Ser410=
NM_001164783.2:c.1226C=	NP_001158255.1:p.Ser409=